Variant report

Variant	nsv528713
Chromosome Location	chr3:133437778-133450371
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:133424848..133426463-chr3:133449782..133451405,2	K562	blood:

Extended variants
information (count: 491 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:491 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4287912	chr3:133437778-133437779	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs560340677	chr3:133437782-133437783	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542685539	chr3:133437863-133437864	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74877188	chr3:133437882-133437883	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576505068	chr3:133437886-133437887	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190445523	chr3:133437892-133437893	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116107700	chr3:133437894-133437895	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572271713	chr3:133437905-133437906	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541347619	chr3:133437979-133437980	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150187611	chr3:133438002-133438003	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530402776	chr3:133438021-133438022	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4582061	chr3:133438026-133438027	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs200549494	chr3:133438077-133438078	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377538921	chr3:133438101-133438102	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562501797	chr3:133438118-133438119	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182159002	chr3:133438131-133438132	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72972297	chr3:133438144-133438145	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs186832959	chr3:133438183-133438184	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184776553	chr3:133438210-133438211	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11717407	chr3:133438264-133438265	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs138840941	chr3:133438273-133438274	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76561274	chr3:133438320-133438321	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567602084	chr3:133438333-133438334	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375236832	chr3:133438339-133438340	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9847885	chr3:133438344-133438345	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs556284730	chr3:133438362-133438363	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190728705	chr3:133438395-133438396	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183137856	chr3:133438431-133438432	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558597991	chr3:133438433-133438434	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149367847	chr3:133438439-133438440	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550962248	chr3:133438457-133438458	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562695223	chr3:133438471-133438472	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551549658	chr3:133438539-133438540	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541259554	chr3:133438582-133438583	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561135293	chr3:133438602-133438603	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35867559	chr3:133438622-133438623	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147410417	chr3:133438675-133438676	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138064837	chr3:133438760-133438761	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562354841	chr3:133438768-133438769	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185646445	chr3:133438776-133438777	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6782434	chr3:133438834-133438835	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs552223390	chr3:133438885-133438886	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527367493	chr3:133438888-133438889	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6782523	chr3:133438917-133438918	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs190408216	chr3:133438918-133438919	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372566602	chr3:133438994-133438995	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553389883	chr3:133439023-133439024	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549394855	chr3:133439125-133439126	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567086238	chr3:133439171-133439172	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10935073	chr3:133439184-133439185	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Hailey-hailey disease	17597066	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133433200-133439400	Weak transcription	Ovary	ovary
2	chr3:133433800-133438000	Enhancers	HepG2	liver
3	chr3:133437600-133439200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
4	chr3:133438000-133438200	Weak transcription	Pancreas	Pancrea
5	chr3:133440400-133440800	Enhancers	HMEC	breast
6	chr3:133440600-133442000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
7	chr3:133440800-133441000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:133441000-133442400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:133442000-133453200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr3:133448000-133451800	Enhancers	HepG2	liver
11	chr3:133448400-133449000	Enhancers	Liver	Liver
12	chr3:133449000-133449600	Enhancers	Pancreas	Pancrea
13	chr3:133449000-133449800	Flanking Active TSS	Liver	Liver
14	chr3:133449600-133450000	Weak transcription	Pancreas	Pancrea
15	chr3:133449800-133451400	Enhancers	Liver	Liver
16	chr3:133450000-133450400	Enhancers	Gastric	stomach
17	chr3:133450000-133453400	Enhancers	Pancreas	Pancrea

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